Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene

Rosser, Lyndon G., McKee, Shane, Millar, David Stuart, Archer, Hayley, Hughes, James, Butler, Rachel, Chuzhanova, Nadia, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Lazarou, Lazarus P. 2008. Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene. Genomic Medicine 2 (3-4) , pp. 77-81. 10.1007/s11568-008-9026-9

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Abstract

The unique case of two sisters with symptoms of RTT and two quite distinct, novel, and apparently de novo microdeletions of the MECP2 gene is described. One sister possessed an 18 base-pair (bp) deletion (c.1155_1172del18) within the deletion hotspot region of exon 4, whereas the other sister exhibited a 43 bp deletion at a different location in the same exon (c.1448_1461del14+29). Although these lesions occurred on the same paternally-derived X chromosome, this is probably due to chance co-occurrence owing to the relatively high mutation rate of the MECP2 gene rather than to a constitutional mutator phenotype.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine Cardiff Catalysis Institute (CCI)
Subjects:	Q Science > QH Natural history > QH426 Genetics R Medicine > R Medicine (General)
Uncontrolled Keywords:	Rett syndrome, MECP2 gene, Familial non-identical mutations
Publisher:	Springer
ISSN:	1871-7934
Last Modified:	06 May 2023 01:14
URI:	https://orca.cardiff.ac.uk/id/eprint/23614

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